Incidental Mutation 'R2216:Nrp2'
ID 241129
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 62802077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 507 (R507*)
Ref Sequence ENSEMBL: ENSMUSP00000109794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027112] [ENSMUST00000063594] [ENSMUST00000075144] [ENSMUST00000102822] [ENSMUST00000114155] [ENSMUST00000114157]
AlphaFold O35375
Predicted Effect probably null
Transcript: ENSMUST00000027112
AA Change: R507*
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 822 906 1.4e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000063594
AA Change: R507*
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
low complexity region 816 831 N/A INTRINSIC
Pfam:DUF3481 839 923 1.6e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000075144
AA Change: R507*
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 827 911 2.3e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102822
AA Change: R507*
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 822 906 2.3e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114155
AA Change: R507*
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 817 901 9.4e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114157
AA Change: R507*
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: R507*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
low complexity region 821 836 N/A INTRINSIC
Pfam:DUF3481 844 928 2.4e-25 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice may exhibit pre- or postnatal lethality, reduced fertility, hydrocephalus, aberrant sensory innervation, reduced interneuron count, seizure susceptibility and abnormal lymphangiogenesis. Homozygotes for a gene trap allele show abnormal neuronal development and axonal trajectories. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 71,922,272 (GRCm39) P146T probably damaging Het
Arnt2 T A 7: 83,924,559 (GRCm39) T423S probably damaging Het
Bend5 A G 4: 111,305,787 (GRCm39) N277S probably null Het
Cd22 G T 7: 30,566,471 (GRCm39) T816N probably damaging Het
Cep126 G A 9: 8,120,679 (GRCm39) R115C probably damaging Het
Cep85 T C 4: 133,858,741 (GRCm39) H710R possibly damaging Het
Cmya5 A T 13: 93,230,003 (GRCm39) L1695H probably damaging Het
Col24a1 T C 3: 145,020,742 (GRCm39) V371A probably benign Het
Csmd1 T A 8: 17,077,355 (GRCm39) probably null Het
Cyp1a1 T A 9: 57,609,352 (GRCm39) probably null Het
Dennd1c C T 17: 57,381,492 (GRCm39) probably null Het
Dmxl1 G A 18: 50,026,990 (GRCm39) V2033I probably benign Het
Dtna A G 18: 23,702,622 (GRCm39) H51R probably damaging Het
Dysf G A 6: 84,184,227 (GRCm39) probably null Het
Gcn1 T A 5: 115,731,720 (GRCm39) V945E probably benign Het
Gpbar1 C G 1: 74,318,053 (GRCm39) L99V probably damaging Het
Hdac9 A T 12: 34,479,516 (GRCm39) D212E probably damaging Het
Itga1 A T 13: 115,133,565 (GRCm39) D448E probably benign Het
Itga2b T A 11: 102,358,692 (GRCm39) N75I probably benign Het
Klra7 T C 6: 130,205,549 (GRCm39) E117G probably benign Het
Kmt2b G A 7: 30,273,490 (GRCm39) R2349C probably benign Het
Masp1 T C 16: 23,310,805 (GRCm39) N209S probably benign Het
Mybpc2 C T 7: 44,161,924 (GRCm39) probably null Het
Myh15 C G 16: 48,986,201 (GRCm39) S1557* probably null Het
Myo3a A C 2: 22,467,783 (GRCm39) T346P probably benign Het
Nim1k A G 13: 120,175,751 (GRCm39) Y152H probably damaging Het
Or13n4 T A 7: 106,423,205 (GRCm39) H176L probably damaging Het
Or5e1 C T 7: 108,354,819 (GRCm39) T252M probably damaging Het
Parp14 T C 16: 35,677,575 (GRCm39) I798V probably benign Het
Pcnx2 C T 8: 126,614,816 (GRCm39) A212T probably benign Het
Pkhd1l1 A T 15: 44,437,291 (GRCm39) H3522L probably damaging Het
Pram1 C T 17: 33,860,258 (GRCm39) A275V probably benign Het
Pramel18 T A 4: 101,767,257 (GRCm39) W169R probably damaging Het
Prkag1 A T 15: 98,713,827 (GRCm39) M1K probably null Het
Prss52 T C 14: 64,351,042 (GRCm39) S276P probably damaging Het
Ranbp17 A T 11: 33,431,125 (GRCm39) V284D probably damaging Het
Reln T C 5: 22,253,003 (GRCm39) D648G probably benign Het
Rnf112 A G 11: 61,343,105 (GRCm39) L190P probably damaging Het
Scn5a G T 9: 119,314,678 (GRCm39) P2010Q probably benign Het
Scn5a T C 9: 119,342,151 (GRCm39) Y1138C probably benign Het
Slc4a9 A G 18: 36,663,798 (GRCm39) H274R probably benign Het
Slc5a6 T G 5: 31,196,679 (GRCm39) E391D possibly damaging Het
Speer2 T C 16: 69,655,730 (GRCm39) Q32R possibly damaging Het
Tars1 A G 15: 11,389,794 (GRCm39) V372A probably benign Het
Thsd7a A T 6: 12,337,267 (GRCm39) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,066,301 (GRCm39) Y222C probably benign Het
Trim40 T C 17: 37,199,875 (GRCm39) I68V probably benign Het
Trp53tg5 T C 2: 164,313,226 (GRCm39) I150V probably benign Het
Ube2u T C 4: 100,389,365 (GRCm39) V109A probably benign Het
Usp54 A T 14: 20,611,908 (GRCm39) D969E probably benign Het
Vil1 G T 1: 74,464,838 (GRCm39) R495L probably benign Het
Wfs1 T A 5: 37,124,564 (GRCm39) K700* probably null Het
Zcchc8 A G 5: 123,845,466 (GRCm39) L298P probably damaging Het
Zfp946 A T 17: 22,673,697 (GRCm39) Q150H possibly damaging Het
Other mutations in Nrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Nrp2 APN 1 62,743,410 (GRCm39) nonsense probably null
IGL01912:Nrp2 APN 1 62,810,896 (GRCm39) missense probably damaging 1.00
IGL01996:Nrp2 APN 1 62,788,419 (GRCm39) missense probably damaging 1.00
IGL02184:Nrp2 APN 1 62,758,099 (GRCm39) nonsense probably null
IGL02682:Nrp2 APN 1 62,810,996 (GRCm39) missense probably benign 0.03
IGL02928:Nrp2 APN 1 62,854,605 (GRCm39) missense probably damaging 1.00
IGL03024:Nrp2 APN 1 62,810,893 (GRCm39) missense probably damaging 1.00
Euphorbia UTSW 1 62,801,972 (GRCm39) missense probably benign 0.02
Sabra UTSW 1 62,822,680 (GRCm39) missense probably damaging 1.00
R0068:Nrp2 UTSW 1 62,784,536 (GRCm39) missense possibly damaging 0.95
R0068:Nrp2 UTSW 1 62,784,536 (GRCm39) missense possibly damaging 0.95
R0683:Nrp2 UTSW 1 62,783,477 (GRCm39) missense probably benign 0.41
R0789:Nrp2 UTSW 1 62,784,609 (GRCm39) missense probably benign 0.44
R1418:Nrp2 UTSW 1 62,822,491 (GRCm39) nonsense probably null
R1468:Nrp2 UTSW 1 62,777,458 (GRCm39) missense probably damaging 1.00
R1468:Nrp2 UTSW 1 62,777,458 (GRCm39) missense probably damaging 1.00
R1544:Nrp2 UTSW 1 62,802,063 (GRCm39) missense probably damaging 1.00
R1645:Nrp2 UTSW 1 62,824,283 (GRCm39) missense probably damaging 0.97
R1677:Nrp2 UTSW 1 62,822,479 (GRCm39) missense probably benign 0.18
R1752:Nrp2 UTSW 1 62,777,600 (GRCm39) missense probably damaging 1.00
R1840:Nrp2 UTSW 1 62,777,498 (GRCm39) missense probably damaging 1.00
R1916:Nrp2 UTSW 1 62,801,906 (GRCm39) missense probably damaging 1.00
R1962:Nrp2 UTSW 1 62,758,090 (GRCm39) missense probably benign 0.03
R2108:Nrp2 UTSW 1 62,783,436 (GRCm39) missense probably damaging 1.00
R2164:Nrp2 UTSW 1 62,783,514 (GRCm39) missense probably damaging 1.00
R2679:Nrp2 UTSW 1 62,824,237 (GRCm39) missense probably benign 0.00
R4349:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4351:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4352:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4353:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4811:Nrp2 UTSW 1 62,758,240 (GRCm39) missense probably damaging 1.00
R5362:Nrp2 UTSW 1 62,808,221 (GRCm39) missense probably benign 0.01
R5387:Nrp2 UTSW 1 62,801,972 (GRCm39) missense probably benign 0.02
R5461:Nrp2 UTSW 1 62,786,370 (GRCm39) nonsense probably null
R5704:Nrp2 UTSW 1 62,824,267 (GRCm39) missense probably benign 0.00
R6143:Nrp2 UTSW 1 62,799,974 (GRCm39) missense probably damaging 1.00
R6303:Nrp2 UTSW 1 62,784,565 (GRCm39) missense probably damaging 1.00
R6304:Nrp2 UTSW 1 62,784,565 (GRCm39) missense probably damaging 1.00
R6376:Nrp2 UTSW 1 62,758,176 (GRCm39) missense possibly damaging 0.65
R6945:Nrp2 UTSW 1 62,799,947 (GRCm39) missense probably damaging 1.00
R7347:Nrp2 UTSW 1 62,784,663 (GRCm39) missense probably benign 0.04
R7393:Nrp2 UTSW 1 62,784,583 (GRCm39) missense probably damaging 0.98
R7593:Nrp2 UTSW 1 62,758,203 (GRCm39) missense probably damaging 0.96
R7881:Nrp2 UTSW 1 62,810,990 (GRCm39) missense probably benign 0.42
R7882:Nrp2 UTSW 1 62,822,680 (GRCm39) missense probably damaging 1.00
R7948:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7958:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7959:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7960:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7961:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8009:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8012:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8014:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8015:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8068:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8069:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8070:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8071:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8206:Nrp2 UTSW 1 62,786,374 (GRCm39) missense probably damaging 1.00
R8791:Nrp2 UTSW 1 62,788,356 (GRCm39) missense probably damaging 1.00
R9090:Nrp2 UTSW 1 62,784,670 (GRCm39) missense probably benign 0.21
R9271:Nrp2 UTSW 1 62,784,670 (GRCm39) missense probably benign 0.21
R9287:Nrp2 UTSW 1 62,835,014 (GRCm39) missense probably damaging 1.00
R9469:Nrp2 UTSW 1 62,804,030 (GRCm39) missense probably damaging 1.00
R9646:Nrp2 UTSW 1 62,777,566 (GRCm39) missense probably damaging 1.00
R9752:Nrp2 UTSW 1 62,851,726 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCGGGCCTCATTGCTGATAC -3'
(R):5'- ATTGCCTCTTGGATGATACCTG -3'

Sequencing Primer
(F):5'- ATTGCTGATACCCAGATCTCTG -3'
(R):5'- CTGATGGGGTTTGATAGATACCTAC -3'
Posted On 2014-10-15